Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.

Shamseldin, Hanan E

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. [electronic resource] - Journal of medical genetics Apr 2012 - 234-41 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1468-6244

10.1136/jmedgenet-2012-100836 doi


Brain--pathology
Consanguinity
Exome
Female
Genomics
Genotype
Humans
Male
Membrane Proteins--genetics
Mitochondria--pathology
Mitochondrial Diseases--diagnosis
Mitochondrial Encephalomyopathies--genetics
Mitochondrial Proteins--genetics
Mutation
Pedigree
Phenotype
Sequence Analysis, DNA